Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2296-2302

  Viñuela, Antonio ^a,b   Morín, Matías ^a,b   Villamar, Manuela ^a,b   Morera, Constantino ^c   Lavilla, M José ^d   Cavallé, Laura ^c   Moreno Pelayo, Miguel A ^a,b   Moreno, Felipe ^a,b   Del Castillo, Ignacio ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; MESSENGER RNA; TRANSCRIPTION FACTOR SOX10;

AUTOSOMAL DOMINANT DISORDER; CASE REPORT; COCHLEA PROSTHESIS; COLOSTOMY; DISEASE CLASSIFICATION; EDN3 GENE; EDNRB GENE; EVOKED BRAIN STEM AUDITORY RESPONSE; EYE COLOR; GENE; GENE MUTATION; HAIR COLOR; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; LETTER; MALE; NUCLEOTIDE SEQUENCE; OTOACOUSTIC EMISSION; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN PIGMENTATION; SOX10 GENE; SYNDROME DELINEATION; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE IV;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ENDOTHELIN-3; GENETIC HETEROGENEITY; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SOXE TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 70349501419     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33026     Document Type: Letter

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